L67I (p.Leu67Ile) variant of MUSK (O15146)
L67I (p.Leu67Ile) in MUSK (O15146) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L67I (p.Leu67Ile) variant details
- p.Leu67Ile
- NCI-TCGA Cosmic COSV9950
- cosmic curated COSV99504
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.16
- MetaLR 0.24
- MetaSVM -0.78
- CADD 21.10
- PolyPhen-2 0.08
- SIFT 0.49
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available